Table 2 Types of CNVs found in the 79 patient samples and their predicted consequences in causing deafness
Types of CNV | Number of occurrence | Possible zygosity | Disease-causing? |
|---|---|---|---|
Homozygous deletion (copy# ratio = 0) | 4 | Homozygous (Hom) | Yes |
Heterozygous deletion (copy# ratio = 0.5) | 21 | Heterozygous (Het) | Possible when combined with sequence mutation(s) |
CNV increase with copy# ratio = 1.5 | 27 | Heterozygous | Possible when combined with sequence mutation(s) |
CNV increase with copy# ratio = 2 | 31 | Het/Hom | Possible |
CNV increase with copy# ratio > 2 | 14 | Het/Hom | Possible |